ClinVar Miner

List of variants studied for Neuronal ceroid lipofuscinosis 10 by Genome Diagnostics Laboratory,University Medical Center Utrecht

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Total variants: 5
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HGVS dbSNP
NM_001909.5(CTSD):c.1072-7G>A rs149019571
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377
NM_001909.5(CTSD):c.353-12C>T rs141523461
NM_001909.5(CTSD):c.827+13T>C rs369602025
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302

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